A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv968220



Internal ID18603448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:97051360..97057102hg38UCSC Ensembl
Innerchr5:96387064..96392806hg19UCSC Ensembl
Innerchr5:96412820..96418562hg18UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg385743
hg195743
hg185743
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2369438, nssv2369442, nssv2369436, nssv2369439, nssv2369437, nssv2369441, nssv2369440, nssv2369445, nssv2369444, nssv2369443
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv968220
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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